Clinical Guidance

No genotype-phenotype correlations have been identified.

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Diagnostic Criteria

Suggestive Findings

Rothmund-Thomson syndrome (RTS) should be suspected in individuals with the classic rash of RTS.

Acute phase

• Starts in infancy, usually between ages three and six months

• Erythema on the cheeks and face

• Spreads to involve the extensor surfaces of the extremities

• Typically sparing of the trunk and abdomen; possible involvement of the buttocks

Chronic phase

• Gradually develops over a period of months to years

• Reticulated hyper- and hypopigmentation, telangiectasias, and areas of punctate atrophy (i.e., poikiloderma)

• Persists throughout life

If the rash is atypical (either in appearance, distribution, or pattern of onset and spread), a diagnosis of probable RTS can be made if two of the following additional features of RTS are present:

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Differential Diagnosis

The differential diagnosis of Rothmund-Thomson syndrome (RTS) includes the disorders summarized in , which can exhibit features of poikiloderma but are otherwise clinically distinct from RTS.

Table 2.

Disorders That Can Exhibit Features of Poikiloderma to Consider in the Differential Diagnosis of Rothmund-Thomson Syndrome (RTS)

Disorder | Gene(s) | MOI | Overlapping Clinical Features of Disorder | Distinguishing Clinical Features of Disorder

Bloom syndrome1 | BLM | AR | • Rash characterized by an erythematous, sun-sensitive lesion of the face; not true poikiloderma

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Rothmund-Thomson syndrome (RTS), the evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Rothmund-Thomson Syndrome (RTS)

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Clinical Guidance

Exposure to heat or sunlight may exacerbate the rash in some individuals. Avoidance of excessive sun exposure decreases the risk for skin cancer. Given the theoretic potential for tumorigenesis, growth hormone (GH) therapy is not recommended for individuals with normal GH levels. For individuals with documented GH deficiency, standard treatment with growth hormone is appropriate.

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Rothmund-Thomson Syndrome"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Rothmund-Thomson Syndrome (RTS)

Source: GeneReviews — "Rothmund-Thomson Syndrome"